EDN1 Chromosome 6
Endothelin 1
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What This Gene Does
This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
Endothelins
Locus Type
gene with protein product
Location
6p24.1
Ensembl
ENSG00000078401
Associated Conditions (4)
Inborn genetic diseases
Auriculocondylar syndrome 3
Question mark ears
isolated
Key Variants
RS143255118
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145546137
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS587777231
Pathogenic
Auriculocondylar syndrome 3, Auriculocondylar syndrome 3
Health Risk
RS587777232
Pathogenic
Auriculocondylar syndrome 3, Auriculocondylar syndrome 3
Health Risk
RS587777233
Pathogenic
Question mark ears, isolated, Question mark ears
Health Risk
RS587777234
Pathogenic
Question mark ears, isolated, Question mark ears
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143255118 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145546137 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS587777231 | Health Risk | Pathogenic | Auriculocondylar syndrome 3, Auriculocondylar syndrome 3 |
| RS587777232 | Health Risk | Pathogenic | Auriculocondylar syndrome 3, Auriculocondylar syndrome 3 |
| RS587777233 | Health Risk | Pathogenic | Question mark ears, isolated, Question mark ears |
| RS587777234 | Health Risk | Pathogenic | Question mark ears, isolated, Question mark ears |